CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 1.000 1 2 2013 2013
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.700 None 0.952 21 6 1998 2019
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 42 0.920 None 1.000 20 41 1998 2019
Late-Infantile Neuronal Ceroid Lipfuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 19 4 0.590 None 1.000 11 1998 2019
Juvenile Neuronal Ceroid Lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 52 73 0.580 None 1.000 10 1998 2019
Adult Neuronal Ceroid Lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.830 None 1.000 7 6 1998 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.040 None 1.000 4 2002 2014
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
disease Nervous System Diseases Disease or Syndrome 48 17 0.320 None 1.000 3 2012 2015
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.020 None 1.000 2 2019 2019
Infantile neuronal ceroid lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.310 None 1.000 2 2009 2013
CUI: C0018975
Disease: Hemeralopia
Hemeralopia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2013 2013
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.010 None 1.000 1 2004 2004
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.110 None 1.000 1 2018 2018
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.010 None 1.000 1 2002 2002
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
Familial Progressive Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
Action Myoclonus-Renal Failure Syndrome
disease Nervous System Diseases Disease or Syndrome 20 20 0.300 None 1.000 1 2015 2015
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 95 0.300 None 1.000 1 2015 2015
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome
disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.010 None 1.000 1 2016 2016
Ceroid Lipofuscinosis, Neuronal, Parry Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.300 None 1.000 1 2013 2013
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 43 0.010 None 1.000 1 2018 2018
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 58 0.010 None 1.000 1 2003 2003
CUI: C3489704
Disease: Vision Disability
Vision Disability
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2013 2013